NM_000151.3:c.497T>G

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  2. NM_000151.3:c.497T>G

HGVS Expressions

  • NG_011808.1:g.13556T>G
  • NM_000151.3:c.497T>G
  • NP_000142.2:p.Val166Gly

Associated Genes

Glucose-6-Phosphatase, Catalytic
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Genomic Location

chr17:42909353

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894571

Clinvar

12010

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
232200.3Palestine2PathogenicGlycogen Storage Disease IParvari et al. 1997
232200.4Palestine2PathogenicGlycogen Storage Disease IParvari et al. 1997
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Contributors

  • Pratibha Nair: 06.05.2019

Edit History

  • Pratibha Nair: 06.05.2019
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© CAGS 2024. All rights reserved.